All patient-level HPO phenotypes from the WES study (>2,000, prefix “MWES”)
in addition to paediatric molecular confirmed patients from the mitoNET and Besta registries (>300, prefix “MREG”)
paediatric molecular confirmed Leigh syndrome patients from the Beijing Leigh Group Project (>200, prefix “BLGP”)
and paediatric molecular confirmed patients curated from the literature (>1,500, prefix “MLIT”)
Total number of patients
## [1] 7746
Patients with a molecular diagnosis
## [1] 6838